NM_003060.4(SLC22A5):c.1267+12G>A AND Renal carnitine transport defect
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002618778.2
Allele description
NM_003060.4(SLC22A5):c.1267+12G>A
Condition(s)
- Name:
- Renal carnitine transport defect (CDSP)
- Synonyms:
- CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Primary carnitine deficiency; Carnitine uptake defect; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008919; MedGen: C0342788; Orphanet: 158; OMIM: 212140
-
24-hydroxycholesterol 7-alpha-hydroxylase isoform X7 [Homo sapiens]
24-hydroxycholesterol 7-alpha-hydroxylase isoform X7 [Homo sapiens]gi|2217361695|ref|XP_047274815.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024